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Page 1
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; i …
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigment …
Electronic Retinal Prostheses.
Palanker D. Palanker D. Cold Spring Harb Perspect Med. 2023 Aug 1;13(8):a041525. doi: 10.1101/cshperspect.a041525. Cold Spring Harb Perspect Med. 2023. PMID: 36781222 Review.
Currently, subretinal arrays are being developed primarily for restoration of central vision in patients impaired by age-related macular degeneration (AMD), while epiretinal implants-for patients blinded by retinitis pigmentosa, where the inner retina is less preser …
Currently, subretinal arrays are being developed primarily for restoration of central vision in patients impaired by age-related macular deg …
Pantothenate kinase-associated neurodegeneration.
Hartig MB, Prokisch H, Meitinger T, Klopstock T. Hartig MB, et al. Curr Drug Targets. 2012 Aug;13(9):1182-9. doi: 10.2174/138945012802002384. Curr Drug Targets. 2012. PMID: 22515741 Review.
PKAN patients present with a progressive movement disorder, dysarthria, cognitive impairment and retinitis pigmentosa. In magnetic resonance imaging, PKAN patients exhibit the pathognonomic "eye of the tiger" sign in the globus pallidus which corresponds to iron acc …
PKAN patients present with a progressive movement disorder, dysarthria, cognitive impairment and retinitis pigmentosa. In magn …
Posterior staphyloma in pathologic myopia.
Ohno-Matsui K, Jonas JB. Ohno-Matsui K, et al. Prog Retin Eye Res. 2019 May;70:99-109. doi: 10.1016/j.preteyeres.2018.12.001. Epub 2018 Dec 8. Prog Retin Eye Res. 2019. PMID: 30537538 Review.
Besides in highly myopic eyes, a posterior staphyloma can be found in non-highly myopic eyes in association with retinitis pigmentosa or localized defects of Bruch's membrane in the cases of which it is not associated with a marked choroidal thinning. ...
Besides in highly myopic eyes, a posterior staphyloma can be found in non-highly myopic eyes in association with retinitis pigment …
Neuroinflammation in retinitis pigmentosa: Therapies targeting the innate immune system.
Zhao L, Hou C, Yan N. Zhao L, et al. Front Immunol. 2022 Oct 27;13:1059947. doi: 10.3389/fimmu.2022.1059947. eCollection 2022. Front Immunol. 2022. PMID: 36389729 Free PMC article. Review.
Retinitis pigmentosa (RP) is an important cause of irreversible blindness worldwide and lacks effective treatment strategies. ...
Retinitis pigmentosa (RP) is an important cause of irreversible blindness worldwide and lacks effective treatment strategies. …
Mitochondrial diseases.
DiMauro S. DiMauro S. Biochim Biophys Acta. 2004 Jul 23;1658(1-2):80-8. doi: 10.1016/j.bbabio.2004.03.014. Biochim Biophys Acta. 2004. PMID: 15282178 Free article. Review.
Mutations in mtDNA can be divided into those that impair mitochondrial protein synthesis in toto and those that affect any one of the 13 respiratory chain subunits encoded by mtDNA. Essential clinical features for each group of diseases are reviewed. ...
Mutations in mtDNA can be divided into those that impair mitochondrial protein synthesis in toto and those that affect any one of the 13 …
Advanced Hydrogels Based Drug Delivery Systems for Ophthalmic Delivery.
Gorantla S, Waghule T, Rapalli VK, Singh PP, Dubey SK, Saha RN, Singhvi G. Gorantla S, et al. Recent Pat Drug Deliv Formul. 2019;13(4):291-300. doi: 10.2174/1872211314666200108094851. Recent Pat Drug Deliv Formul. 2019. PMID: 31912771 Review.
This review will focus on the hydrogel drug delivery systems highlighting the gelling mechanisms and emerging stimuli-responsive hydrogels from preformed gels, nanogels, and the role of advanced 3D printed hydrogels in vision-threatening diseases like age-related macular degenera …
This review will focus on the hydrogel drug delivery systems highlighting the gelling mechanisms and emerging stimuli-responsive hydrogels f …
Masquerade syndrome: A review of uveitic imposters.
Dutta Majumder P, Khetan V, Biswas J. Dutta Majumder P, et al. Asia Pac J Ophthalmol (Phila). 2024 Mar-Apr;13(2):100054. doi: 10.1016/j.apjo.2024.100054. Epub 2024 Apr 5. Asia Pac J Ophthalmol (Phila). 2024. PMID: 38583526 Free article. Review.
We explore the prevalence of primary intraocular lymphoma, leukaemia, retinoblastoma, and other malignancies, as well as conditions like retinitis pigmentosa and endophthalmitis that can present as uveitis. ...
We explore the prevalence of primary intraocular lymphoma, leukaemia, retinoblastoma, and other malignancies, as well as conditions like …
Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
Chen X, Xu N, Li J, Zhao M, Huang L. Chen X, et al. Stem Cell Res Ther. 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. Stem Cell Res Ther. 2023. PMID: 37798796 Free PMC article. Review.
This study aims to quantitatively examine the effectiveness and safety of stem cell therapy for patients with IRDs, including retinitis pigmentosa and Stargardt disease (STGD). METHODS: We searched PubMed, EMBASE, Web of Science, Cochrane Library databases, and the …
This study aims to quantitatively examine the effectiveness and safety of stem cell therapy for patients with IRDs, including retinitis …
52 results